Entrez gene ID | | 5158 |
Official gene symbol | | PDE6B |
Full name | | phosphodiesterase 6B, cGMP-specific, rod, beta |
Aliases | | ,CSNB3,CSNBAD2,PDEB,RP40,rd1, |
Gene summary | | Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 4 Locus: 4p16.3 |
Gene position | | 619363 - 664681 Map Viewer |
Gene orientation | | plus |
Gene size | | 45319 bp |
Gene sequence |
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OMIM ID | | 180072 |
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